Wyszynski D F, Beaty T H, Maestri N E
Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, Maryland, USA.
Cleft Palate Craniofac J. 1996 Sep;33(5):406-17. doi: 10.1597/1545-1569_1996_033_0406_gonocr_2.3.co_2.
Nonsyndromic oral clefts are among the most common birth defects, affecting approximately 1 in 1000 Caucasian newborns. In recent decades, many investigators have used genetic and epidemiologic methods to identify etiologic factors, but results have often been inconclusive or contradictory. Etiologic heterogeneity is undoubtedly a major component in these birth defects, and there may not be a single answer to this problem. Here, we describe the main features of published studies pointing out their strengths and limitations. Additionally, we give insight into current methods for detecting the presence of interaction between genetic markers and environmental exposures in the etiology of oral clefts.
非综合征性口腔颌面部裂隙是最常见的出生缺陷之一,约每1000名白种人新生儿中就有1例受影响。近几十年来,许多研究人员使用遗传和流行病学方法来确定病因,但结果往往不确定或相互矛盾。病因异质性无疑是这些出生缺陷的一个主要因素,这个问题可能没有单一的答案。在这里,我们描述已发表研究的主要特征,指出其优点和局限性。此外,我们深入探讨了目前检测口腔颌面部裂隙病因中基因标记与环境暴露之间相互作用的方法。